Special

HsaEX0055698 @ hg38

Exon Skipping

Gene
ENSG00000007376 | RPUSD1
Description
RNA pseudouridylate synthase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:14173]
Coordinates
chr16:786827-787477:-
Coord C1 exon
chr16:787354-787477
Coord A exon
chr16:787077-787179
Coord C2 exon
chr16:786827-786928
Length
103 bp
Sequences
Splice sites
3' ss Seq
CGATTCTCCCTCTCCTGCAGCTG
3' ss Score
10.7
5' ss Seq
AGGGTGTGG
5' ss Score
2.35
Exon sequences
Seq C1 exon
GTTCTGCCACCAGCTGGATTTCTCCACCAGCGGGGCGCTGTGCGTGGCCCTAAACAAGGCAGCCGCCGGCAGCGCGTACAGGTGCTTCAAGGAGCGGCGCGTGACCAAGGCTTACCTGGCATTG
Seq A exon
CTGCGGGGGCACATCCAGGAGAGCCGGGTAACCATCAGCCATGCCATTGGCAGGAACAGCACGGAGGGCCGGGCCCACACCATGTGCATCGAGGGCTCGCAGG
Seq C2 exon
GTTGTGAGAACCCAAAGCCAAGCCTCACAGATCTCGTGGTTCTGGAACACGGGCTGTACGCAGGCGATCCTGTCTCCAAAGTGCTGCTGAAGCCGCTCACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000007376_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=67=75%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.208 C2=0.019
Domain overlap (PFAM):

C1:
PF0160011=Corona_S1=FE(30.8=100),PF0084917=PseudoU_synth_2=FE(27.0=100)
A:
PF0084917=PseudoU_synth_2=PD(23.7=80.0)
C2:
PF0160011=Corona_S1=PD(13.4=53.3),PF0084917=PseudoU_synth_2=PD(16.3=56.7)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCAGCTGGATTTCTCCACC
R:
CGTGAGCGGCTTCAGCAG
Band lengths:
218-321
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development